ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828448656
Gene: BTD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24989
ClinVar RCV Id:
RCV000021907
RCV001171830
RCV001800312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357681.1:p.Ala62Val
CA278170
NM_001370752.1:c.185C>T