ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995489
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000215014
RCV000226910
RCV000410574
RCV000485971
ClinVar Variation:
231422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.His239Leu
CA10580689
NM_007300.4:c.716A>T