ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658819938
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000637392
RCV000772446
RCV003478360
ClinVar Variation:
531235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser588Gly
CA10598504
NM_007294.4:c.1762A>G