ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580379281
Gene: B9D1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056496.1:p.Pro203Leu
CA398692177
NM_015681.6:c.608C>T