ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828762846
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390225
ClinVar RCV Id:
RCV000420579
RCV001828439
RCV004022464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Thr545Ile
CA1713203
NM_001378454.1:c.1634C>T