ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828766296
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529373
ClinVar RCV Id:
RCV000634781
RCV002406358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ile3545Met
CA1715038
NM_001378454.1:c.10635A>G