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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:
CA883227277
Gene: KLK2
HGNC
NCBI
KLK3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1415929933
MyVariant Identifiers:
chr19:g.51375050C>T (hg19)
chr19:g.50871794C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.50871794C>T , CM000681.2:g.50871794C>T
GRCh38
NC_000019.9:g.51375050C>T , CM000681.1:g.51375050C>T
GRCh37
NC_000019.8:g.56066862C>T
NCBI36
NG_031984.1:g.3362C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000593493.5:c.-332-1389C>T
(KLK2)
ENSP00000472852.1:n.-332-1389C>T
ENST00000595375.5:n.149+1045C>T
(KLK2)
ENST00000596950.5:n.113+937C>T
(KLK2)
ENST00000597509.5:n.243+937C>T
(KLK2)
XR_935817.1:n.1325-5887C>T
(KLK3)
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