ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270712
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000144202
RCV000478903
RCV000528149
RCV000564764
ClinVar Variation:
156185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro659Ala
CA001319
NM_007294.4:c.1975C>G