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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA587803171
Gene: GRHPR
HGNC
NCBI
Linked Data
dbSNP Id:
rs1433497709
gnomAD v2:
9-37422647-GA-G
gnomAD v3:
9-37422650-GA-G
gnomAD v4:
9-37422650-GA-G
MyVariant Identifiers:
chr9:g.37422648del (hg19)
chr9:g.37422651del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.37422651del , CM000671.2:g.37422651del
GRCh38
NC_000009.11:g.37422648del , CM000671.1:g.37422648del
GRCh37
NC_000009.10:g.37412648del
NCBI36
NG_008135.1:g.4942del
Transcript Alleles
HGVS
Amino-acid change
XM_024447716.1:c.202del
XP_024303484.1:p.Thr68ArgfsTer?
XM_024447717.1:c.202del
XP_024303485.1:p.Thr68ArgfsTer?
XR_002956828.1:n.217del
XR_002956829.1:n.217del
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