ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356046
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220880
ClinVar RCV Id:
RCV000224192
RCV000445400
RCV000444233
RCV001082528
RCV002453744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Thr383Ala
CA350101
NM_015120.4:c.1147A>G