ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690649
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482905
ClinVar RCV Id:
RCV000573001
RCV000820698
RCV001527065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Pro651Leu
CA10597813
NM_007297.4:c.1952C>T