ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658819974
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000637408
RCV001013643
RCV004003842
ClinVar Variation:
531244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser645Cys
CA10598158
NM_007294.4:c.1934C>G