ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829917475
Gene: ACVR1B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3143033
ClinVar RCV Id:
RCV004428402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064733.3:p.Leu16Phe
CA384883685
NM_020328.4:c.46C>T