ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278244
Gene: BTD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
36368
ClinVar RCV:
RCV000021953
ClinVar Variation:
25031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000051.1:p.Leu215Phe
CA278243
NM_000060.4:c.643C>T