ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992179
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
487936
ClinVar RCV:
RCV000587381
RCV000764121
RCV001018505
RCV001053353
RCV001328037
RCV004002446
ClinVar Variation:
496362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser980Thr
CA10595829
NM_007297.4:c.2939G>C