ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825004706
Gene: ACVRL1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1640498
ClinVar RCV Id:
RCV003128847
RCV002153084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000011.2:p.Asp171Asn
CA6572917
NM_000020.3:c.511G>A