ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573078601
Gene: BSCL2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001372957.1:p.Ser344Phe
CA205518
NM_001386028.1:c.1031C>T