ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693849
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000573336
RCV001360071
ClinVar Variation:
481166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile1271Thr
CA10594054
NM_007297.4:c.3812T>C