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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:
CA2619452970
Gene: INHBC
HGNC
NCBI
Linked Data
gnomAD v4:
12-57450276-AC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.57450277del , CM000674.2:g.57450277del
GRCh38
NC_000012.11:g.57844060del , CM000674.1:g.57844060del
GRCh37
NC_000012.10:g.56130327del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000309668.3:c.*255del
MANE Select
ENSP00000308716.2:n.*255del
ENST00000309668.2:c.*255del
ENSP00000308716.2:n.*255del
NM_005538.3:c.*255del
NP_005529.1:n.*255del
NM_005538.4:c.*255del
MANE Select
NP_005529.1:n.*255del
Search 100 bp 5'
Search 100 bp 3'